L37P (p.Leu37Pro) variant of ABCA4 (P78363)
L37P (p.Leu37Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs2101166972
- ClinGen CA341286639
- ClinVar RCV001981162
- Ensembl rs2101166972
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.69
- MetaLR 0.83
- MetaSVM 0.27
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available